{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5460&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5420&ordering=-synonyms","results":[{"identifier":"Marsili syndrome.","acronym":"MARSIS.","accession":"DI-05171","synonyms":"Congenital analgesia, autosomal dominant.; Insensitivity to pain, congenital, autosomal dominant.; ","cross_references":"MeSH; D000699.","definition":"An autosomal dominant disorder characterized by congenital pain insensitivity. Painless cutaneous thermal burns and bone fractures are present in affected individuals. Corneal reflex is absent, sweating is decreased or absent. Patients have normal cognitive abilities, and display no evidence of distal weakness. ","keywords":null},{"identifier":"Pancreatic lipase deficiency.","acronym":"PNLIPD.","accession":"DI-05008","synonyms":"Congenital absence of pancreatic lipase.; PL deficiency.; ","cross_references":"MeSH; D008052.","definition":"An autosomal recessive disorder characterized by exocrine pancreatic failure. Clinical findings include oily/greasy stools from infancy or early childhood, absence of discernible pancreatic disease, and significantly decreased pancreatic lipolytic activity. ","keywords":null},{"identifier":"Cone-rod dystrophy 2.","acronym":"CORD2.","accession":"DI-00318","synonyms":"Cone-rod retinal dystrophy 2.; CRD2.; ","cross_references":"MeSH; D058499.","definition":"An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. ","keywords":"KW-0182:Cone-rod dystrophy.; "},{"identifier":"Jalili syndrome.","acronym":"JALIS.","accession":"DI-00603","synonyms":"Cone-rod dystrophy and amelogenesis imperfecta.; ","cross_references":"MeSH; D012164.","definition":"A syndrome characterized by the association of cone-rod dystrophy and amelogenesis imperfecta. ","keywords":"KW-0182:Cone-rod dystrophy.; KW-0986:Amelogenesis imperfecta.; "},{"identifier":"Cone dystrophy retinal 3B.","acronym":"RCD3B.","accession":"DI-00316","synonyms":"Cone dystrophy with night blindness and supernormal rod responses KCNV2-related.; Cone dystrophy with supernormal rod electroretinogram.; ","cross_references":"MeSH; D058499.","definition":"A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy. ","keywords":null},{"identifier":"Cone dystrophy, retinal 3A.","acronym":"RCD3A.","accession":"DI-00315","synonyms":"Cone dystrophy with night blindness and supernormal rod responses.; Cone dystrophy with supernormal rod electroretinogram.; ","cross_references":"MeSH; D058499.","definition":"A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy. ","keywords":null},{"identifier":"Cone dystrophy 5.","acronym":"COD5.","accession":"DI-02905","synonyms":"Cone dystrophy 5 X-linked.; ","cross_references":"MeSH; D058499.","definition":"An X-linked cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. ","keywords":null},{"identifier":"Combined oxidative phosphorylation deficiency 3.","acronym":"COXPD3.","accession":"DI-01366","synonyms":"Concentric cardiomyopathy hypotonia and lactic acidosis.; Encephalomyopathy respiratory failure and lactic acidosis.; ","cross_references":"MeSH; D028361.","definition":"A mitochondrial disease resulting in severe metabolic acidosis with encephalomyopathy or with hypertrophic cardiomyopathy. Patients show a severe defect in mitochondrial translation leading to a failure to assemble adequate amounts of three of the oxidative phosphorylation complexes. ","keywords":"KW-0122:Cardiomyopathy.; KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex I deficiency, nuclear type 1.","acronym":"MC1DN1.","accession":"DI-01981","synonyms":"Complex I mitochondrial respiratory chain deficiency.; Deficiency of mitochondrial NADH dehydrogenase component of complex I.; Mitochondrial complex I deficiency.; NADH:Q(1) oxidoreductase deficiency.; NADH:Ubiquinone oxidoreductase deficiency.; NADH-Coenzyme Q reductase deficiency.; ","cross_references":"MeSH; D028361.","definition":"A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex IV deficiency.","acronym":"MT-C4D.","accession":"DI-01469","synonyms":"Complex 4 mitochondrial respiratory chain deficiency.; Complex IV mitochondrial respiratory chain deficiency.; COX deficiency.; Cytochrome c oxidase deficiency.; Lethal neonatal cardiomyopathy hypertrophic due to cytochrome c oxidase deficiency.; ","cross_references":"MeSH; D030401.","definition":"A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and intellectual disability. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex III deficiency, nuclear type 1.","acronym":"MC3DN1.","accession":"DI-01982","synonyms":"Complex 3 mitochondrial respiratory chain deficiency.; Complex III mitochondrial respiratory chain deficiency.; ","cross_references":"MeSH; D017237.","definition":"A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex II deficiency, nuclear type 1.","acronym":"MC2DN1.","accession":"DI-01380","synonyms":"Complex 2 mitochondrial respiratory chain deficiency.; Complex II mitochondrial respiratory chain deficiency.; SDH-defective infantile leukoencephalopathy.; Succinate CoQ reductase deficiency.; Succinate dehydrogenase deficiency.; ","cross_references":"MeSH; D017237.","definition":"A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome. MC2DN1 inheritance is autosomal recessive. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Night blindness, congenital stationary, 1A.","acronym":"CSNB1A.","accession":"DI-00375","synonyms":"Complete X-linked CSNB.; Congenital stationary night blindness with myopia.; Hemeralopia-myopia.; Nyctalopia.; XLCSNB.; X-linked congenital stationary night blindness.; ","cross_references":"MeSH; D009755.","definition":"A non-progressive retinal disorder characterized by impaired night vision. Congenital stationary night blindness type 1A is characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. ","keywords":"KW-1014:Congenital stationary night blindness.; "},{"identifier":"Night blindness, congenital stationary, 1B.","acronym":"CSNB1B.","accession":"DI-00377","synonyms":"Complete autosomal recessive CSNB.; Complete congenital stationary night blindness autosomal recessive.; ","cross_references":"MeSH; D009755.","definition":"A non-progressive retinal disorder characterized by impaired night vision. Congenital stationary night blindness type 1B is an autosomal recessive form associated with a negative electroretinogram waveform. Patients are night blind from an early age, and when maximally dark- adapted, they could perceive lights only with an intensity equal to or slightly dimmer than that normally detected by the cone system. ERGs in response to single brief flashes of light have clearly detectable a-waves, which are derived from photoreceptors, and greatly reduced b- waves, which are derived from the second-order inner retinal neurons. ERGs in response to sawtooth flickering light indicate a markedly reduced on response and a nearly normal OFF response. There is no subjective delay in the perception of suddenly appearing white vs black objects on a gray background. ","keywords":"KW-1014:Congenital stationary night blindness.; "},{"identifier":"Night blindness, congenital stationary, 1F.","acronym":"CSNB1F.","accession":"DI-03687","synonyms":"Complete autosomal recessive CSNB.; Complete congenital stationary night blindness 1F autosomal recessive.; ","cross_references":"MeSH; D009755.","definition":"An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. ","keywords":"KW-1014:Congenital stationary night blindness.; "},{"identifier":"Night blindness, congenital stationary, 1C.","acronym":"CSNB1C.","accession":"DI-02588","synonyms":"Complete autosomal recessive CSNB.; ","cross_references":"MeSH; D009755.","definition":"A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. ","keywords":"KW-1014:Congenital stationary night blindness.; "},{"identifier":"Night blindness, congenital stationary, 1E.","acronym":"CSNB1E.","accession":"DI-03426","synonyms":"Complete autosomal recessive CSNB.; ","cross_references":"MeSH; D009755.","definition":"An autosomal recessive, non-progressive retinal disorder characterized by impaired night vision, absence of the electroretinogram (ERG) b- wave, and variable degrees of involvement of other visual functions. Affected individuals have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells. ","keywords":"KW-1014:Congenital stationary night blindness.; "},{"identifier":"Night blindness, congenital stationary, 1D.","acronym":"CSNB1D.","accession":"DI-03077","synonyms":"Complete autosomal recessive CSNB.; ","cross_references":"MeSH; D009755.","definition":"An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision. CSNB1D is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus. ","keywords":"KW-1014:Congenital stationary night blindness.; "},{"identifier":"Achromatopsia 2.","acronym":"ACHM2.","accession":"DI-00022","synonyms":"Complete achromatopsia.; RMCH2.; Rod monochromacy 2.; Rod monochromatism 2.; Total colorblindness.; ","cross_references":"MeSH; D003117.","definition":"An autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ","keywords":null},{"identifier":"C1q deficiency 3.","acronym":"C1QD3.","accession":"DI-06646","synonyms":"Complement component C1q deficiency 3.; ","cross_references":"MeSH; D007105.","definition":"An autosomal recessive disorder caused by impaired activation of the complement classical pathway. It generally leads to severe immune complex disease characterized by recurrent skin lesions, chronic infections, an increased risk of systemic lupus erythematosus, and glomerulonephritis. ","keywords":null}]}